fraser syndrome

Preferred Label : fraser syndrome;

MeSH definition : Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome.;

MeSH synonym : syndrome, fraser; Cryptophthalmos-Syndactyly syndrome; cryptophthalmos syndactyly syndrome; Cryptophthalmos-Syndactyly syndromes; cryptophthalmos with other malformations;

CISMeF synonym : fraser's syndrome; Fraser; syndrome, Cryptophthalmos-Syndactyly;

MeSH annotation : do not confuse with FRASIER SYNDROME;

Wikipedia link : https://en.wikipedia.org/wiki/Fraser syndrome;

Details

Origin ID

D058497;

UMLS CUI

C0265233;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Fraser syndrome [ICD-11 Subcategory]
- Fraser syndrome [MedDRA Preferred Term]
- Fraser syndrome [OMIM phenotypic series]
CISMeF manual mappings
- Fraser syndrome [ORDO Disease]
- fraser syndrome [SNOMED Notion]
Currated CISMeF NLP mapping
- Cryptophthalmos Syndrome [NCIt concept]
- Cryptophthalmos syndrome (disorder) [SNOMED CT concept]
- Fraser Syndrome [NCIt concept]
- Fraser syndrome [DO Concept]
- Fraser syndrome [Disease (Nov.)]
- Fraser syndrome (disorder) [Inactive SNOMED CT concept]
- Fraser syndrome 1 [OMIM Phenotype]
DO Cross reference
- Fraser syndrome [DO Concept]
Has phenotype(s) (HPO)
- Absent eyebrows and eyelashes [HPO term]
- Broad and depressed nasal bridge [HPO term]
- Flattened nasal bridge [HPO term]
- Hypoplastic nostrils [HPO term]
- Hypoplastic, notched nares [HPO term]
- Microtia [HPO term]
- Stillbirth [HPO term]
- White corneal opacification [HPO term]
Indexing information
- FRAS1 protein, human [MeSH Supplementary Concept]
- FREM2 protein, human [MeSH Supplementary Concept]
Ne pas confondre avec
- Fraser-like syndrome [ORDO Disease]
ORDO relation(s)
- Fraser syndrome [ORDO Disease]
Record concept(s)
- fraser syndrome [MeSH concept]
See also
- bifid nose with or without anorectal and renal anomalies [MeSH Supplementary Concept]
- frasier syndrome [MeSH Descriptor]
See also inter- (CISMeF)
- Fraser-like syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cryptophthalmos Syndrome [NCIt concept]
- Cryptophthalmos syndrome (disorder) [SNOMED CT concept]
- Fraser Syndrome [NCIt concept]
- Fraser syndrome [ORDO Disease]
- Fraser syndrome [DO Concept]
- Fraser syndrome [Disease (Nov.)]
- Fraser syndrome [MedDRA Preferred Term]
- Fraser syndrome 1 [OMIM Phenotype]
- fraser syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category (who)]

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